Identification of a Mutation in SPG11 in an Iranian Patient with Spastic Paraplegia and Ears of the Lynx Sign
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s12031-020-01501-2.pdf
Reference20 articles.
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2. Blackstone C (2012) Cellular pathways of hereditary spastic paraplegia. Annu Rev Neurosci 35:25–47
3. Casali C, Valente E, Bertini E, Montagna G, Criscuolo C, De Michele G, Villanova M, Damiano M, Pierallini A, Brancati F (2004) Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. Neurology 62:262–268
4. Crosby AH, Proukakis C (2002) Is the transportation highway the right road for hereditary spastic paraplegia? Am J Hum Genet 71:1009–1016
5. Depienne C, Stevanin G, Brice A, Durr A (2007) Hereditary spastic paraplegias: an update. Curr Opin Neurol 20:674–680
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Novel SPG11 Mutation in Hereditary Spastic Paraplegia with Thin Corpus Callosum;Neurology India;2022-01
2. A novel de novo NIPA1 missense mutation associated to hereditary spastic paraplegia;Journal of Human Genetics;2021-06-09
3. Description of clinical features and genetic analysis of one ultra-rare (SPG64) and two common forms (SPG5A and SPG15) of hereditary spastic paraplegia families;Journal of Neurogenetics;2021-03-26
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